Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly

Microcephaly is a devastating condition defined by a small head and small brain compared to the age- and sex-matched population. Mutations in a number of different genes causative for microcephaly have been identified, e.g., MCPH1, WDR62, and ASPM. Recently, mutations in the gene encoding the enzyme...

Disgrifiad llawn

Manylion Llyfryddiaeth

Prif Awduron:	Dorit Schleinitz, Anna Seidel, Ruth Stassart, Jürgen Klammt, Petra G. Hirrlinger, Ulrike Winkler, Susanne Köhler, John T. Heiker, Ria Schönauer, Joanna Bialek, Knut Krohn, Katrin Hoffmann, Peter Kovacs, Johannes Hirrlinger
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Frontiers Media S.A. 2018-07-01
Cyfres:	Frontiers in Genetics
Pynciau:	microcephaly asparagine synthetase mutation compound heterozygous exome sequencing genetic variants
Mynediad Ar-lein:	https://www.frontiersin.org/article/10.3389/fgene.2018.00245/full
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!